Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5261
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphorylase kinase catalytic subunit gamma 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHKG2
Synonyms (NCBI Gene) Gene synonyms aliases
GSD9C
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic i
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137853588 G>A Pathogenic Coding sequence variant, missense variant
rs137853589 T>A Pathogenic Coding sequence variant, missense variant
rs137853590 C>T Pathogenic Coding sequence variant, stop gained
rs137853591 C>T Pathogenic Coding sequence variant, missense variant
rs137853592 T>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045827 hsa-miR-138-5p CLASH 23622248
MIRT040308 hsa-miR-615-3p CLASH 23622248
MIRT720509 hsa-miR-939-3p HITS-CLIP 19536157
MIRT720508 hsa-miR-6852-5p HITS-CLIP 19536157
MIRT720507 hsa-miR-6742-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity TAS 10487978
GO:0004689 Function Phosphorylase kinase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
172471 8931 ENSG00000156873
Protein
UniProt ID P15735
Protein name Phosphorylase b kinase gamma catalytic chain, liver/testis isoform (PHK-gamma-LT) (PHK-gamma-T) (EC 2.7.11.19) (PSK-C3) (Phosphorylase kinase subunit gamma-2)
Protein function Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the
PDB 2Y7J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 24 291 Protein kinase domain Domain
Sequence
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Calcium signaling pathway
Insulin signaling pathway
Glucagon signaling pathway
  Glycogen breakdown (glycogenolysis)
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Glycogen Storage Disease glycogen storage disease ixc, Glycogen phosphorylase kinase deficiency rs752961445, rs137853588, rs137853589, rs1596687577, rs137853590, rs1372753669, rs1596680941, rs1596687555, rs137853591, rs762089284, rs137853592, rs1555467052, rs1555467557, rs1270523244, rs1567260747 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 35549678
Adenoma Liver Cell Associate 24389071
Breast Neoplasms Associate 24884718
Carcinoma Renal Cell Associate 36081434
Colorectal Neoplasms Associate 26486455
Endometrial Neoplasms Associate 34170849
Glycogen Storage Disease Associate 22899091, 30659246, 35549678
Glycogen Storage Disease Type II Associate 24389071, 35549678
Glycogen Storage Disease Type Ix Associate 24389071
Glycogen Storage Disease Type VI Associate 24389071